Differential Diagnosis for Buffalo Hump in a 21-year-old

• Single most likely diagnosis
  • Cushing's syndrome: This condition, characterized by excess cortisol production, can lead to the development of a buffalo hump, which is a fatty deposit on the back of the neck. The young age of the patient and the presence of a buffalo hump make Cushing's syndrome a strong consideration.
• Other Likely diagnoses
  • Obesity: A buffalo hump can also be seen in individuals with significant obesity, as excess fat can accumulate in this area.
  • Lipodystrophy: This condition involves the abnormal distribution of body fat and can result in the accumulation of fat in the neck and back area, resembling a buffalo hump.
• Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
  • Pheochromocytoma: Although less common, pheochromocytoma (a tumor of the adrenal gland) can cause Cushing's syndrome, which in turn can lead to a buffalo hump. Missing this diagnosis could have severe consequences due to the potential for hypertensive crises.
  • Medullary thyroid carcinoma: This rare type of thyroid cancer can produce excess calcitonin, leading to a buffalo hump among other symptoms. Early detection is crucial for effective treatment.
• Rare diagnoses
  • Multiple endocrine neoplasia (MEN) syndromes: These are hereditary conditions that can lead to the development of tumors in multiple endocrine glands, potentially causing Cushing's syndrome and a buffalo hump.
  • Familial partial lipodystrophy: A rare genetic disorder characterized by the loss of body fat from certain areas of the body and the accumulation of fat in others, including the possibility of a buffalo hump.